Barth disease is a very rare congenital metabolic and neuromuscular disorder that only affects boys. It is passed from the mother to the son through the X-chromosome. Some primary characteristics of Barth's Syndrome include abnormalities of heart and skeletal muscles. Others cause a weakened heart, low blood sugar, diharrea, mouth ulcers, and physical and mental learning disabilities.
Barth's Syndrome is caused by the mutations of the TAZ (or G4.5) gene on the X chromosome. Men are the only ones who can show symptoms of the disease because they only have one X chromosome. Thus, if they have the mutation, they will show the signs of Barth's Symptoms, while females have another healthy X chromosome and TAZ gene that is dominant to the diseased one.
The daughters of men with Barth's Syndrome will be carriers of the disease, but only males will have any symptoms. There are at least 50 cases of the disease worldwide, but it is suspected that there are more and that the disease is underdiagnosed.
Research is continually being conducted to discovered what causes Barth's Syndrome and how doctors and scientists can better treat it.
Some Effects of Barth's Syndrome?
Changes to metabolism
Motor delays
Delay in growth
Weaken immune system
Chronic fatigue
Lack of Stamina
Treatments
There are no specific treatments for Barth's Syndrome. However, there are antibiotics that can fight the bacterias that cause Barth's Syndrome, including granulocyte colony stimulating factor, that combats infection by increasing production of white blood cells. Another is carnatine, which is a dietary supplement that is only affective in a few of the Barth children, and in others it made muscles weaker and had a negative effect.
Although there is no real treatment for Barth's Syndrome, it is key that boys with it are diagnosed at an early age so that they can be protected from heart failure and other symptoms that can eventually lead to their deaths.
Table of Contents
Barth's Syndrome
By: Chad, Jesse, and ZackWhat is Barth's Syndrome?
Barth disease is a very rare congenital metabolic and neuromuscular disorder that only affects boys. It is passed from the mother to the son through the X-chromosome. Some primary characteristics of Barth's Syndrome include abnormalities of heart and skeletal muscles. Others cause a weakened heart, low blood sugar, diharrea, mouth ulcers, and physical and mental learning disabilities.Barth's Syndrome is caused by the mutations of the TAZ (or G4.5) gene on the X chromosome. Men are the only ones who can show symptoms of the disease because they only have one X chromosome. Thus, if they have the mutation, they will show the signs of Barth's Symptoms, while females have another healthy X chromosome and TAZ gene that is dominant to the diseased one.
The daughters of men with Barth's Syndrome will be carriers of the disease, but only males will have any symptoms. There are at least 50 cases of the disease worldwide, but it is suspected that there are more and that the disease is underdiagnosed.
Research is continually being conducted to discovered what causes Barth's Syndrome and how doctors and scientists can better treat it.
Some Effects of Barth's Syndrome?
Treatments
There are no specific treatments for Barth's Syndrome. However, there are antibiotics that can fight the bacterias that cause Barth's Syndrome, including granulocyte colony stimulating factor, that combats infection by increasing production of white blood cells. Another is carnatine, which is a dietary supplement that is only affective in a few of the Barth children, and in others it made muscles weaker and had a negative effect.Although there is no real treatment for Barth's Syndrome, it is key that boys with it are diagnosed at an early age so that they can be protected from heart failure and other symptoms that can eventually lead to their deaths.
Works Cited
http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html What is Barth's Syndrome?http://children.webmd.com/barth-syndrome-11237What is Barth's Syndrome? Some Effects of Barth's Syndrom
http://www.ninds.nih.gov/disorders/barth/barth.htm Treatments
www.nature.com/.../ journal_cover_large.gif Picture of cell with Barth's Syndrome